Matrix DNA Diagnostics

Overview | Research | Educational Activities | Services | Facilities | Faculty | Employment | News | CGT Home

Personnel | Test Sensitivity

Matrix DNA Diagnostics is a clincial laboratory concentrating on mutation detection in complex collagen genes and the fibrillin-1 gene. Collagens are important structural components of connective tissues. Defects in collagens result in numerous disorders of bone and cartilage. Fibrillin-1 plays an important role in the formation and stability of elastic fibers. Mutations in fibrillin-1 are manfested by defects in several tissues including blood vessels and the skeletel system.

The laboratory began defining and characterizing defects in certain collagens and their genes more than twenty years ago. Currently we provide reliable direct DNA based mutation detection for the genes involved with Osteogenesis Imperfecta, Achondrogenesis II/ hypochondrogenesis and related chondrodysplasias, Stickler/Marshall/Kniests syndrome, Schmid Metaphyseal Chondrodysplasia and Marfan Syndrome.

The analysis is a laborious multi-step process. The genes for fibrillar collagens (such as type I and type II) have complex structures composed of 51-54 coding regions (exons) with 50-53 interspersed non-coding regions (introns). The FBN1 gene and COL11A1 genes are even more complex. They are composed of 65 and 66 exons respectively. The individual coding sequences and portions of the flanking non-coding regions are amplifyed by the PCR method. These individual amplicons are then directly sequenced to reveal DNA alterations. The results of DNA sequencing are then compared to the findings contained in our extensive databases.

Click the links below to download test information, required forms and sample submission instructions.